This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: PLA2G6
PLA2G6 (phospholipase A2 group VI)
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Is also in the GeneReviews Neurodegeneration with Brain Iron Accumulation Disorders Overview, list of the genetic basis of ten types of NBIA (http://www.ncbi.nlm.nih.gov/books/NBK121988/)Created: 10 Jun 2016, 11:17 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Early Onset Complex Disease
- Infantile neuroaxonal dystrophy 1, 256600
- Neurodegeneration with brain iron accumulation 2B, 610217
- Parkinson disease 14, 612953
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Hereditary ataxia
- DDG2P
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Early onset dystonia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Severe insulin resistance and lipodystrophy syndromes
- Hereditary ataxia, adult onset
- Mitochondrial disorders
History Filter Activity
10 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PLA2G6 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Radboud University Medical Center, Nijmegen
24 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PLA2G6 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert